Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.S264L
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FECH

NM_000140.5:p.S264L

Associated Papers

Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.

Ventura P et al.

European Journal of Dermatology : Ejd, 2020

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

Balwani M et al.

Molecular Medicine (cambridge, Mass.), 2013

Four novel mutations of the coproporphyrinogen III oxidase gene.

Aurizi C et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2009

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

Aurizi C et al.

Molecular Genetics and Metabolism, 2007

Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.

Najahi-Missaoui W et al.

Blood, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."